A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057171



Internal ID105957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31659596..31659629hg38UCSC Ensembl
chr12:31812530..31812563hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561075
Supporting Variants
Samples
Known GenesMETTL20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057171
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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